Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Friedreich ataxia (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic venous infarction of spinal cord (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive congenital rubella encephalomyelitis |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adult-onset autosomal recessive cerebellar ataxia (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary spastic paraplegia |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 42 |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 41 (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 43 |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 46 (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinocerebellar ataxia type 45 (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple sclerosis of the spinal cord |
Is a |
True |
Chronic disorder of spinal cord (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|